{"id":"W4366483876","doi":"10.1016/j.gimo.2023.100810","title":"Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"National Health and Medical Research Council; Cumming School of Medicine, University of Calgary; Australian Government; Murdoch Children's Research Institute; University of North Carolina at Chapel Hill; University of Melbourne; Medical Research Council; Alberta Children's Hospital Research Institute; Children’s Hospital of Wisconsin Research Institute","keywords":"Hypothalamic hamartoma; Mosaic; GLI3; Hamartoma; Biology; Computational biology; Genetics; Endocrinology; Art; Gene; Visual arts","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001722087,0.0002347269,0.0004595673,0.0001823391,0.00007225429,0.00001619647,0.001022079,0.0001608377,0.00005785856],"category_scores_gemma":[0.0005780096,0.000180285,0.00005411497,0.0008925778,0.0003067022,0.000003130991,0.0008002294,0.0002301859,0.00002483387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000158505,"about_ca_system_score_gemma":0.0001416385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002769541,"about_ca_topic_score_gemma":0.001334964,"domain_scores_codex":[0.99767,0.0002557717,0.0007812986,0.0005422384,0.0002586483,0.0004920503],"domain_scores_gemma":[0.9987777,0.0001353981,0.0001821516,0.0007864816,0.00005499777,0.00006321882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001364458,0.0002163731,0.1013158,0.00007921069,0.0002436834,0.0001776534,0.001119602,0.003431158,0.88502,0.0000685359,0.002112894,0.006078623],"study_design_scores_gemma":[0.009332829,0.002643201,0.4723095,0.0005717086,0.0002048265,0.00009962012,0.001806024,0.002522583,0.5000898,0.005583929,0.00409583,0.0007401106],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991798,0.003997608,0.00002265786,0.0007084469,0.0003241056,0.0007380855,0.00001783595,0.00001178824,0.002381493],"genre_scores_gemma":[0.9952818,0.003193265,0.0002611956,0.0001544692,0.0001289567,0.00007089721,0.00005190106,0.00004462808,0.0008129168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3849302,"threshold_uncertainty_score":0.7351809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03683333469331219,"score_gpt":0.323547169900441,"score_spread":0.2867138352071288,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}